Canonical Allele Identifier: CA199413
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 156093
ClinVar RCV Id: RCV000144141 RCV000170051
dbSNP Id: rs267608419
MyVariant Identifiers: chrX:g.18525282del (hg19) chrX:g.18507162del (hg38)
PubMed: PMID:18790821
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18507162del , CM000685.2:g.18507162del GRCh38
NC_000023.10:g.18525282del , CM000685.1:g.18525282del GRCh37
NC_000023.9:g.18435203del NCBI36
NG_008475.1:g.86558del

Transcript Alleles

HGVS Amino-acid change
ENST00000623535.2:c.64+2del MANE Select ENSP00000485244.1:n.64+2del
ENST00000635828.1:c.64+2del ENSP00000490170.1:n.64+2del
ENST00000637881.1:c.64+2del ENSP00000489879.1:n.64+2del
ENST00000674046.1:c.64+2del ENSP00000501174.1:n.64+2del
ENST00000379989.6:c.64+2del ENSP00000369325.3:n.64+2del
ENST00000379996.7:c.64+2del ENSP00000369332.3:n.64+2del
ENST00000463994.4:c.64+2del ENSP00000485184.1:n.64+2del
ENST00000623364.3:c.64+2del ENSP00000485581.1:n.64+2del
ENST00000623535.1:c.64+2del ENSP00000485244.1:n.64+2del
ENST00000624700.3:c.64+2del ENSP00000485359.1:n.64+2del
NM_001037343.1:c.64+2del NP_001032420.1:n.64+2del
NM_003159.2:c.64+2del NP_003150.1:n.64+2del
XM_011545569.1:c.64+2del XP_011543871.1:n.64+2del
XM_011545570.1:c.-23+2del XP_011543872.1:n.-23+2del
XR_950484.1:n.316+2del
NM_001323289.1:c.64+2del NP_001310218.1:n.64+2del
NM_001323289.2:c.64+2del MANE Select NP_001310218.1:n.64+2del
NM_001037343.2:c.64+2del NP_001032420.1:n.64+2del
NM_003159.3:c.64+2del NP_003150.1:n.64+2del
Search 100 bp 5'
Search 100 bp 3'